CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Four genes-DAND5, PKD1L1, MMP21, and CIROP-form a genetic module that has specifically evolved in vertebrate species that harbor motile cilia in their left-right organizer (LRO). We find here that CIROZ (previously known as C1orf127) is also specifically expressed in the LRO of mice, frogs, and fish, where it encodes a protein with a signal peptide followed by 3 zona pellucida N domains, consistent with extracellular localization. We report 16 individuals from 10 families with bi-allelic CIROZ inactivation variants, which cause heterotaxy with congenital heart defects.

Cell-free DNA Levels in Herpes Zoster: A Cross-sectional Longitudinal Study.

This study investigates serum cell-free DNA fluctuations in patients with herpes zoster or post-herpetic neuralgia, offering insight into the tissue damage and inflammatory dynamics associated with these conditions. A single-centre combined cross-sectional and longitudinal study was conducted with 59 patients to assess cell-free DNA levels in herpes zoster and post-herpetic neuralgia. Cell-free DNA was extracted from blood samples of patients with herpes zoster or post-herpetic neuralgia and compared with healthy controls.

Endurance Exercise Promotes Episodes of Myocardial Injury in Individuals with a Pathogenic Desmoplakin (DSP) Variant.

Background: Desmoplakin (DSP) variants are associated with left-predominant or biventricular arrhythmogenic cardiomyopathy. Exercise promotes penetrance and sustained ventricular arrhythmias (VA) in right-sided arrhythmogenic right ventricular cardiomyopathy, but its effect is unknown in DSP variant carriers.

Objectives: To assess whether exercise is associated with clinical outcomes among individuals with a pathogenic or likely pathogenic (P/LP) DSP variant.

Review of Functional Cranioplasty and Implantable Neurotechnology.

Cranioplasty for secondary reconstruction of cranial defects has historically focused on simply replacing the missing cranial bone to restore cerebral protection and fluid dynamics, but recent innovations have led to the development of customized cranial implants that address both bone and soft tissue deficits while avoiding postoperative complications such as temporal hollowing. In addition, customized cranial implants have incorporated implantable neurotechnology like ventriculostomy shunts, intracranial pressure monitoring devices, and medicine delivery systems within low-profile designs to convert previously "basic" implants into "smart" implants for added functionality. These "smart" implants aim to reduce complications and improve patient outcomes by leveraging the cranial space to house advanced technologies, providing benefits such as real-time biosensing, and treatment of chronic neurological conditions.

Vagus nerve stimulation in treatment-resistant depression: A one-year, randomized, sham-controlled trial.

Background: Few treatments are available for individuals with marked treatment-resistant depression (TRD).

Objective: Evaluate the safety and effectiveness of FDA-approved adjunctive vagus nerve stimulation (VNS) in patients with marked TRD.

Methods: This 12-month, multicenter, double-blind, sham-controlled trial included 493 adults with marked treatment-resistant major depression who were randomized to active or no-stimulation sham VNS for 12 months.

3-Month Melatonin Supplementation to Reduce Brain Oxidative Stress and Improve Sleep in Mild Cognitive Impairment: A Randomised Controlled Feasibility Trial.

Melatonin has multiple proposed therapeutic benefits including antioxidant properties, circadian rhythm synchronisation and sleep promotion. Since these areas are also recognised risk factors for dementia, melatonin has been hypothesised to slow cognitive decline in older adults. Participants with Mild Cognitive Impairment (MCI) were recruited from the community for a 12-week randomised placebo-controlled parallel, feasibility trial of 25 mg oral melatonin nightly.

Interdisciplinary Fascia Therapy: A Proof-of-Concept Pilot Study for a New Myofascial Approach for Chronic Low Back Pain.

Chronic low back pain (CLBP) is highly prevalent and relevant in all medical fields. This study evaluated the safety and effectiveness of interdisciplinary fascia therapy (IFT) for CLBP, focusing on its potential to reduce pain intensity, disability, and regulate autonomic nervous system (ANS) activity. Nine participants with CLBP each underwent nine sessions of IFT, twice weekly.

Cognitive and behavioural therapy for insomnia in the treatment of adolescent insomnia: A systematic review and meta-analysis of randomised controlled trials.

Insomnia is common in adolescents with associated negative health consequences. This systematic review and meta-analysis assessed the effect of cognitive behavioural therapy for insomnia interventions on insomnia symptoms and subjective sleep quality in adolescents aged 10-19 years. Key electronic databases, including CINAHL, Embase, MEDLINE, PsycINFO and Scopus, were systematically searched from inception to October 2024, and five randomised controlled trials met inclusion criteria for qualitative synthesis.

Exploring the pharmacist role in insomnia management and care provision: A scoping review.

Background: Insomnia is a highly burdensome sleep disorder, with a global prevalence of approximately 30% in adults. Insomnia has negative effects on daily functioning and can play a pivotal role in the development and progression of comorbid mental and physical disease. Therefore, appropriate and timely management is essential.

Cutaneous vasculitis in systemic lupus erythematosus: epidemiology and risk factors over a 20-year follow-up.

Objectives: Cutaneous vasculitis (CV) is common in SLE, but the epidemiology and risk factors remain unclear. We aimed to identify the trends and risk factors for CV in patients with SLE over a period of 20 years.

Methods: The Birmingham Lupus Cohort is an observational longitudinal cohort of SLE patients.

A study protocol for a multi-country cluster randomized controlled trial of the impact of a multi-component One Health strategy to eliminate Opisthorchis viverrini and soil transmitted helminths in the Lower Mekong Basin.

Background: Opisthorchis viverrini (OV) and soil-transmitted helminths (STH) are two of the most common helminths contributing to the Neglected Tropical Disease (NTDs) burden in the Lower Mekong Basin. Although mass drug administration is the cornerstone of control programs to reduce morbidity caused by these infections, this approach has limitations in preventing re-infections. Elimination requires additional measures such as reservoir host treatment, improved hygiene and health education to reinforce MDA's impact.

Treatment of Pediatric Obesity in Rural Settings: Identifying and Overcoming Barriers to Care.

The purpose of this study is to review the current data regarding implementing pediatric obesity treatment recommendations in rural areas. Data considering barriers to care, challenges as well as opportunities, including leveraging telemedicine, provider training, e-consults to improve pediatric obesity care are provided. Given the pediatric obesity prevalence, particularly in rural settings, a multipronged approach is needed to provide equitable access to vital care.

Selective regulation of IFN-γ and IL-4 co-producing unconventional T cells by purinergic signaling.

Unconventional T cells, including mucosal-associated invariant T (MAIT), natural killer T (NKT), and gamma-delta T (γδT) cells, comprise distinct T-bet+, IFN-γ+ and RORγt+, IL-17+ subsets which play differential roles in health and disease. NKT1 cells are susceptible to ARTC2-mediated P2X7 receptor (P2RX7) activation, but the effects on other unconventional T-cell types are unknown. Here, we show that MAIT, γδT, and NKT cells express P2RX7 and are sensitive to P2RX7-mediated cell death.

The moderating roles of childhood adversity on program outcomes in residential care in a diverse sample.

A better understanding of how childhood adversity (CA) patterns influence the effectiveness of Trauma Informed Care (TIC) for youth in residential programs is needed. Utilizing a longitudinal design, the study examined how CA patterns influenced aggression and self-injurious behavior during treatment and emotional and conduct outcomes for 1,343 racially diverse adolescents in a TIC residential program. Latent class analysis identified five CA patterns.

Video-based peer assessment of collaborative teamwork in a large-scale interprofessional learning activity.

Background: The assessment of team performance within large-scale Interprofessional Learning (IPL) initiatives is an important but underexplored area. It is essential for demonstrating the effectiveness of collaborative learning outcomes in preparing students for professional practice. Using Kane's validity framework, we investigated whether peer assessment of student-produced videos depicting collaborative teamwork in an IPL activity was sufficiently valid for decision-making about team performance, and where the sources of error might lie to optimise future iterations of the assessment.

Integrating digital behavioural therapy for insomnia into primary care: A feasibility mixed-methods study.

Digital cognitive behavioural therapy for insomnia has been developed to increase capacity and scalability for patients with insomnia, but implementation in primary care remains limited. The aim of the trial was to evaluate the implementation of digital insomnia therapy into primary care practice for patients with insomnia. We conducted a single-arm feasibility trial of digital behavioural therapy for insomnia (SleepFix) providing sleep restriction therapy with insomnia patients in primary care.

The effect of restricted and free-living conditions on light exposure and sleep in older adults.

During the COVID-19 pandemic, studies reported that restricted living conditions were associated with worse subjective sleep quality. This effect might have been caused by reduced light exposure during lockdowns. We investigated light exposure levels, subjective and objective sleep and physical activity levels in older adults during restricted and free-living conditions after the pandemic.

Moving towards an equitable future: Rethinking the use of race in pediatric densitometry.

Current guidelines from the International Society for Clinical Densitometry (ISCD) recommend considering race, sex, and age in calculating pediatric bone density z-scores by Dual-Energy X-ray Absorptiometry (DXA). However, as patient populations become increasingly diverse, the application of these guidelines presents significant challenges, potentially leading to racial bias and systemic inequities in care. In response to growing calls for a reevaluation of race's role in clinical decision-making, we aimed to assess the readiness of front-line providers of DXA services to address these challenges.